Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish (original) (raw)

Abstract

Ellis van Creveld syndrome (EVC) is an autosomal recessive disorder which has previously been mapped to human chromosome 4p16.1. This disorder is characterized by disproportionate dwarfism, polydactyly, cleft palate, natal teeth, and congenital heart disease. The MSX1 homeobox gene also maps to the 4p16.1 region. Msx gene transcripts in the mouse embryo are known to be involved in pattern formation of the developing limb bud and craniofacial bones. Thus, on the basis of both map location and known gene function, MSX1 was an excellent candidate as the causative gene for EVC. Nonetheless, direct DNA sequencing of both exons of the MSX1 gene in five affected individuals segregating with the EVC phenotype, as well as those of two obligate carriers, revealed no mutations in the coding region of the gene.

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Authors and Affiliations

  1. Gene Mapping Unit, Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Building 49, Room 4A66, Bethesda, MD 20892, USA Tel.: +1 301-402-2119; Fax: +1 301-402-2170 e-mail: mhp@aeolus.nchgr.nih.gov, , , , , , US
    Susan E. Ide & M. H. Polymeropoulos
  2. Medical Genetics Branch, National Center for Human Genome Research, National Institutes of Health, Building 10, Room 10C101, 10 Center Drive MSC 1852, Bethesda, MD 20892-1752, USA, , , , , , US
    Rosa Isela Ortiz De Luna & Clair A. Francomano
  3. Center for Medical Genetics, Johns Hopkins University School of Medicine, Philadelphia, PA, USA, , , , , , US
    R. I. Ortiz De Luna

Authors

  1. Susan E. Ide
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  2. Rosa Isela Ortiz De Luna
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  3. Clair A. Francomano
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  4. M. H. Polymeropoulos
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  5. R. I. Ortiz De Luna
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Received: 10 May 1996 / Revised: 9 July 1996

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Ide, S., Luna, R., Francomano, C. et al. Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish.Hum Genet 98, 572–575 (1996). https://doi.org/10.1007/s004390050261

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